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Chapter Category: Channels and Transporters
From the book The Cystic Fibrosis Transmembrane Conductance Regulator
The CFTR Gene and Genetics of Cystic Fibrosis
Rebecca Rowntree and Ann Harris
Cystic Fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene. The CFTR gene, located on chromosome 7q31, was identified in 1989. Genomic DNA probes from the chromosomal region (DNA sequences that showed high homology across species) were used to screen a cDNA library made from cultured epithelial cells of the sweat gland. This enabled the identification of one cDNA clone that contained the first exon of the CFTR gene. The hybridization of exon 1-containing DNA fragments to other epithelial cDNA libraries from several tissues and cell types (including colon carcinoma cell lines, pancreas and adult lungs) identified 18 overlapping cDNA clones that corresponded to the entire CFTR gene transcript. Further studies of linkage disequilibrium (the nonrandom association of alleles at linked loci) and family studies strongly suggested that the chromosome 7 region identified by the other two methods was indeed that CFTR gene locus.
- ISBN: 0-306-47837-4
- Publication date: October 9, 2003
- Series: Intelligence Unit
The Cystic Fibrosis Transmembrane Conductance Regulator
Edited by: Kevin Kirk and David C. Dawson
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Cystic Fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene. The CFTR gene, located on chromosome 7q31, was identified in 1989. Genomic DNA probes from the chromosomal region (DNA sequences that showed high homology across species) were used to screen a cDNA...
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